Medical biology (hereditary disease)

1.

MEDICAL BIOLOGY
HEREDITARY DISEASES

2.

Klinefelter syndrome
• Klinefelter syndrome (KS), also known as 47,XXY is the
set of symptoms that result from two or more X
Chromosomes in males.
• The primary features are infertility and small poorly
functioning testicles.Often, symptoms are subtle and
subjects do not realize they are affected.
• Sometimes, symptoms are more evident and
may include weaker muscles, greater height,
poor Coordination , less body hair, breast
growth , and less interest in sex.
• Often it is only at puberty that these symptoms
are noticed. Intelligence is usually normal;
however, reading difficulties and problems with
speech are more common.
• Symptoms are typically more severe if three or
more X chromosomes are present (48,XXXY
syndrome or 49,XXXXY syndrome ).
• Klinefelter syndrome occurs randomly.The
extra X chromosome comes from the father
and mother nearly equally.

3.

COGNITIVE AND DEVELOPMENTAL
• Some degree of language learning or
reading impairment may be present, and
neuropsychological testing often reveals
deficits in executive functions , although
these deficits can often be overcome
through early intervention.
• delays in motor development may occur,
which can be addressed through
occupational and physical therapies.
• XXY males may sit up, crawl, and walk
later than other infants; they may also
struggle in school, both academically and
with sports. It’s estimated that 10% of men
with Klinefelter syndrome are Autistic.

4.

Treatment
• The genetic variation is irreversible, thus
there is no causal therapy. From the onset
of puberty, the existing testosterone
deficiency can be compensated by
appropriate hormone replacement
therapy.
• Testosterone preparations are available in
the form of syringes, patches or gel. If
gynecomastia is present, the Surgical
removal of the Brest, may be considered
for both the psychological reasons and to
reduce the risk of breast cancer.
• The use of Behavioral therapy can
mitigate any language disorders,
difficulties at school, and socialization. An
approach by Occupational therapy is
useful in children, especially those who
have dyspraxia .

5.

Infertility treatment
• Intracytoplasmic Sperm injection:
• Methods of reproductive medicine,
such as intracytoplasmic sperm
injection (ICSI) with previously
conducted testicular sperm extraction
(TESE), have led to men with
Klinefelter's syndrome to produce
biological offspring.
• By 2010, over 100 successful
pregnancies have been reported
using IVF technology with surgically
removed sperm material from males
with KS.

6.

• Prognosis
• The lifespan of individuals
with Klinefelter syndrome
appears to be reduced by
approximately 2.1 years
compared to the general male
population.These results are
still questioned data, are not
absolute, and need further
testing.

7.

• Epidemiology
• This syndrome, evenly
distributed in all ethinic
groups, has a Prevalence of
one to two subjects per every
1000 males in the general
population.However, it is
estimated that only 25% of
the individuals with Klinefelter
syndrome are diagnosed
throughout their lives 3.1% of
infertile males have Klinefelter
syndrome. The syndrome is
also the main cause of male
hypogonadism

8.

• History
• The syndrome was named after
American endocrinologist :
• Harry Klinefelter, who in 1942
worked with Fuller.
• Albright and E. C. Reifenstein
at Massachusetts General
Hospital in Boston,
Massachusetts.
• The account given by Klinefelter
came to be known as Klinefelter
syndrome as his name
appeared first on the published
paper, and seminiferous tubule
dysgenesis was no longer
used.

9.

Questions for Other Members:
1. Explain Hemophilia?
2. Explain Neurofibromastosis ?
3. Explain Phenylketonuria
Disorder?
4. Briefly explain Sick cell disease?
5. Define Turners Syndrome?
6. Briefly explain Color blindness ?

10.

THANK YOU
• Medical biology{ group 2}
This POWERPOINT PRESENTATION: